Canonical Allele Identifier: CA424870527

Gene: NBAS

Linked Data

• dbSNP Id: rs1677361533
• gnomAD v4: 2-15424387-G-A
• MyVariant Identifiers: chr2:g.15564511G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424387G>A , CM000664.2:g.15424387G>A	GRCh38
NC_000002.11:g.15564511G>A , CM000664.1:g.15564511G>A	GRCh37
NC_000002.10:g.15481962G>A	NCBI36
NG_032964.1:g.141962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.602C>T
ENST00000700062.1:c.602C>T
ENST00000700065.1:n.2518C>T
ENST00000700066.1:c.2022C>T	ENSP00000514780.1:p.Thr674=
ENST00000281513.10:c.2505C>T MANE Select	ENSP00000281513.5:p.Thr835=
ENST00000281513.9:c.2505C>T	ENSP00000281513.5:p.Thr835=
ENST00000441755.5:c.6C>T	ENSP00000396501.1:p.Thr2=
ENST00000442506.5:c.8C>T
NM_015909.3:c.2505C>T	NP_056993.2:p.Thr835=
NR_052013.2:n.2549C>T
XM_011510357.1:c.2376C>T	XP_011508659.1:p.Thr792=
XM_011510358.1:c.2505C>T	XP_011508660.1:p.Thr835=
XM_011510359.1:c.1866C>T	XP_011508661.1:p.Thr622=
XM_011510360.1:c.306C>T	XP_011508662.1:p.Thr102=
XM_011510361.1:c.297C>T	XP_011508663.1:p.Thr99=
XM_011510357.2:c.2376C>T	XP_011508659.1:p.Thr792=
XM_011510358.2:c.2505C>T	XP_011508660.1:p.Thr835=
XM_011510360.2:c.306C>T	XP_011508662.1:p.Thr102=
XM_011510361.2:c.297C>T	XP_011508663.1:p.Thr99=
XM_017004317.1:c.2505C>T	XP_016859806.1:p.Thr835=
XM_024452961.1:c.1866C>T	XP_024308729.1:p.Thr622=
NM_015909.4:c.2505C>T MANE Select	NP_056993.2:p.Thr835=
NR_052013.3:n.2535C>T